LRRC50

Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.^[5][6]

DNAAF1
Identifiers
Aliases	DNAAF1, CILD13, LRRC50, ODA7, dynein (axonemal) assembly factor 1, dynein axonemal assembly factor 1, swt, DAU1
External IDs	OMIM: 613190; MGI: 1915520; HomoloGene: 12256; GeneCards: DNAAF1; OMA:DNAAF1 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q24.1 Start 84,145,287 bp[1] End 84,178,767 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 E1 Start 120,301,974 bp[2] End 120,325,193 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell left testis right testis olfactory zone of nasal mucosa nasal epithelium mucosa of paranasal sinus male germ cell sperm caput epididymis Top expressed in seminiferous tubule spermatid spermatocyte morula ascending aorta jejunum aortic valve blastocyst duodenum pharynx More reference expression data BioGPS n/a
Gene ontology Molecular function dynein complex binding Cellular component cell projection spindle pole plasma membrane cilium axoneme cytoskeleton cytoplasm cytosol nuclear speck extracellular region Biological process cilium assembly determination of pancreatic left/right asymmetry outer dynein arm assembly axonemal dynein complex assembly lung development epithelial cilium movement involved in determination of left/right asymmetry determination of digestive tract left/right asymmetry determination of liver left/right asymmetry heart looping cilium movement inner dynein arm assembly left/right pattern formation regulation of cilium beat frequency motile cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 123872 68270 Ensembl ENSG00000154099 ENSMUSG00000031831 UniProt Q8NEP3 Q9D2H9 RefSeq (mRNA) NM_178452 NM_001318756 NM_026648 RefSeq (protein) NP_001305685 NP_848547 NP_080924 Location (UCSC) Chr 16: 84.15 – 84.18 Mb Chr 8: 120.3 – 120.33 Mb PubMed search [3] [4]
Wikidata
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Function

Leucine-rich repeat-containing protein 50 is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli.^[5]

Clinical significance

Mutations in the LRRC50 gene are associated with primary ciliary dyskinesia.^[6]